332 related articles for article (PubMed ID: 22850020)
1. Translating exome sequencing from research to clinical diagnostics.
Coonrod EM; Margraf RL; Voelkerding KV
Clin Chem Lab Med; 2011 Dec; 50(7):1161-8. PubMed ID: 22850020
[TBL] [Abstract][Full Text] [Related]
2. Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis.
Ku CS; Wu M; Cooper DN; Naidoo N; Pawitan Y; Pang B; Iacopetta B; Soong R
Expert Rev Mol Diagn; 2012 Mar; 12(2):159-73. PubMed ID: 22369376
[TBL] [Abstract][Full Text] [Related]
3. Developing genome and exome sequencing for candidate gene identification in inherited disorders: an integrated technical and bioinformatics approach.
Coonrod EM; Durtschi JD; Margraf RL; Voelkerding KV
Arch Pathol Lab Med; 2013 Mar; 137(3):415-33. PubMed ID: 22770468
[TBL] [Abstract][Full Text] [Related]
4. Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.
Takeichi T; Nanda A; Liu L; Salam A; Campbell P; Fong K; Akiyama M; Ozoemena L; Stone KL; Al-Ajmi H; Simpson MA; McGrath JA
Exp Dermatol; 2013 Dec; 22(12):825-31. PubMed ID: 24279917
[TBL] [Abstract][Full Text] [Related]
5. Advances in clinical next-generation sequencing: target enrichment and sequencing technologies.
Ballester LY; Luthra R; Kanagal-Shamanna R; Singh RR
Expert Rev Mol Diagn; 2016; 16(3):357-72. PubMed ID: 26680590
[TBL] [Abstract][Full Text] [Related]
6. Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.
Tetreault M; Bareke E; Nadaf J; Alirezaie N; Majewski J
Expert Rev Mol Diagn; 2015 Jun; 15(6):749-60. PubMed ID: 25959410
[TBL] [Abstract][Full Text] [Related]
7. [Next-generation DNA sequencing in clinical diagnostics].
Lacoste C; Fabre A; Pécheux C; Lévy N; Krahn M; Malzac P; Bonello-Palot N; Badens C; Bourgeois P
Arch Pediatr; 2017 Apr; 24(4):373-383. PubMed ID: 28242148
[TBL] [Abstract][Full Text] [Related]
8. Exome sequencing: dual role as a discovery and diagnostic tool.
Ku CS; Cooper DN; Polychronakos C; Naidoo N; Wu M; Soong R
Ann Neurol; 2012 Jan; 71(1):5-14. PubMed ID: 22275248
[TBL] [Abstract][Full Text] [Related]
9. Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.
Carr IM; Morgan J; Watson C; Melnik S; Diggle CP; Logan CV; Harrison SM; Taylor GR; Pena SD; Markham AF; Alkuraya FS; Black GC; Ali M; Bonthron DT
Hum Mutat; 2013 Jul; 34(7):945-52. PubMed ID: 23554237
[TBL] [Abstract][Full Text] [Related]
10. Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.
de Koning TJ; Jongbloed JD; Sikkema-Raddatz B; Sinke RJ
Expert Rev Mol Diagn; 2015 Jan; 15(1):61-70. PubMed ID: 25367078
[TBL] [Abstract][Full Text] [Related]
11. Next-generation sequencing and its applications in molecular diagnostics.
Su Z; Ning B; Fang H; Hong H; Perkins R; Tong W; Shi L
Expert Rev Mol Diagn; 2011 Apr; 11(3):333-43. PubMed ID: 21463242
[TBL] [Abstract][Full Text] [Related]
12. Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.
Cherukuri PF; Maduro V; Fuentes-Fajardo KV; Lam K; ; Adams DR; Tifft CJ; Mullikin JC; Gahl WA; Boerkoel CF
BMC Genomics; 2015 Nov; 16():998. PubMed ID: 26602380
[TBL] [Abstract][Full Text] [Related]
13. Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.
Chen MJ; Wei SY; Yang WS; Wu TT; Li HY; Ho HN; Yang YS; Chen PL
Hum Reprod; 2015 Jul; 30(7):1732-42. PubMed ID: 25924657
[TBL] [Abstract][Full Text] [Related]
14. Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.
Waldmüller S; Schroeder C; Sturm M; Scheffold T; Imbrich K; Junker S; Frische C; Hofbeck M; Bauer P; Bonin M; Gawaz M; Gramlich M
Mol Cell Probes; 2015 Oct; 29(5):308-14. PubMed ID: 25979592
[TBL] [Abstract][Full Text] [Related]
15. Expanding DNA diagnostic panel testing: is more better?
Klee EW; Hoppman-Chaney NL; Ferber MJ
Expert Rev Mol Diagn; 2011 Sep; 11(7):703-9. PubMed ID: 21902532
[TBL] [Abstract][Full Text] [Related]
16. What can exome sequencing do for you?
Majewski J; Schwartzentruber J; Lalonde E; Montpetit A; Jabado N
J Med Genet; 2011 Sep; 48(9):580-9. PubMed ID: 21730106
[TBL] [Abstract][Full Text] [Related]
17. Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery.
Priya RR; Rajasimha HK; Brooks MJ; Swaroop A
Methods Mol Biol; 2012; 884():335-51. PubMed ID: 22688718
[TBL] [Abstract][Full Text] [Related]
18. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.
Xue Y; Ankala A; Wilcox WR; Hegde MR
Genet Med; 2015 Jun; 17(6):444-51. PubMed ID: 25232854
[TBL] [Abstract][Full Text] [Related]
19. Challenges and opportunities for next-generation sequencing in companion diagnostics.
Lin E; Chien J; Ong FS; Fan JB
Expert Rev Mol Diagn; 2015 Feb; 15(2):193-209. PubMed ID: 25249308
[TBL] [Abstract][Full Text] [Related]
20. Next generation diagnostics of heritable connective tissue disorders.
Salam A; Simpson MA; Stone KL; Takeichi T; Nanda A; Akiyama M; McGrath JA
Matrix Biol; 2014 Jan; 33():35-40. PubMed ID: 23896220
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
